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1. Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency

Author

Tong, Zhi-Bin, Sullivan, Shannon D., Lawless, Lindsey M., Vanderhoof, Vien, Zachman, Keith, and Nelson, Lawrence M.

Subjects
*GENETIC mutation, *MITOCHONDRIAL DNA, *ETIOLOGY of diseases, *DNA polymerases, *RESTRICTION fragment length polymorphisms, *HETEROZYGOSITY, *FEMALE infertility, *PREMATURE ovarian failure, *DISEASE susceptibility, *GENES, *GENETIC polymorphisms, *INTERSEXUALITY, *OVARIAN diseases, *RESEARCH funding, *CROSS-sectional method, *DISEASE complications
Abstract

The study objective was to determine if mutations in mitochondrial DNA polymerase gamma (POLG) are associated with spontaneous 46,XX primary ovarian insufficiency (sPOI) using restriction fragment length polymorphism analysis of genomic DNA. Of 201 women with 46,XX sPOI analyzed, we found only one case (0.5%, 95% confidence interval 0-3%) of heterozygosity for a POLG mutation, suggesting that this is not a common genetic etiology for this form of infertility. [ABSTRACT FROM AUTHOR]

Published
2010
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